Incidental Mutation 'IGL03073:Gnaq'
ID 417578
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gnaq
Ensembl Gene ENSMUSG00000024639
Gene Name guanine nucleotide binding protein, alpha q polypeptide
Synonyms Galphaq, 6230401I02Rik, 1110005L02Rik, Dsk1, Dsk10, G alpha q, GqI, Gq
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03073
Quality Score
Status
Chromosome 19
Chromosomal Location 16110195-16364827 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 16293470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 137 (N137K)
Ref Sequence ENSEMBL: ENSMUSP00000025541 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025541]
AlphaFold P21279
PDB Structure Crystal Structure of G Protein-Coupled Receptor Kinase 2 in Complex with Galpha-q and Gbetagamma Subunits [X-RAY DIFFRACTION]
Crystal Structure of p63RhoGEF complex with Galpha-q and RhoA [X-RAY DIFFRACTION]
Structure of heterotrimeric G protein Galpha-q beta gamma in complex with an inhibitor YM-254890 [X-RAY DIFFRACTION]
Crystal structure of activated G alpha Q bound to its effector phospholipase C beta 3 [X-RAY DIFFRACTION]
Structure of human regulator of G protein signaling 2 (RGS2) in complex with murine Galpha-q(R183C) [X-RAY DIFFRACTION]
Structure of human regulator of G protein signaling 2 (RGS2) in complex with murine Galpha-q(R183C) [X-RAY DIFFRACTION]
Crystal structure of Galphaq in complex with full-length human PLCbeta3 [X-RAY DIFFRACTION]
Structure of a fragment of human phospholipase C-beta3 delta472-559, in complex with Galphaq [X-RAY DIFFRACTION]
Structure of a fragment of human phospholipase C-beta3 delta472-569, bound to IP3 and in complex with Galphaq [X-RAY DIFFRACTION]
Structure of a fragment of human phospholipase C-beta3 delta472-581, bound to IP3 and in complex with Galphaq [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000025541
AA Change: N137K

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000025541
Gene: ENSMUSG00000024639
AA Change: N137K

DomainStartEndE-ValueType
G_alpha 19 358 1.24e-216 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167656
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170229
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184935
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a guanine nucleotide-binding protein. The encoded protein, an alpha subunit in the Gq class, couples a seven-transmembrane domain receptor to activation of phospolipase C-beta. Mutations at this locus have been associated with problems in platelet activation and aggregation. A related pseudogene exists on chromosome 2.[provided by RefSeq, Nov 2010]
PHENOTYPE: Mutant mice exhibit pigmentation anomalies affecting the ears, tail and footpads. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933440M02Rik T C 7: 124,930,735 (GRCm39) noncoding transcript Het
Actr6 A G 10: 89,562,556 (GRCm39) S108P probably damaging Het
Adam34 A T 8: 44,103,940 (GRCm39) N568K probably damaging Het
Anpep A G 7: 79,488,703 (GRCm39) L408P probably damaging Het
Atp13a1 T C 8: 70,251,152 (GRCm39) V459A probably damaging Het
Atp2b1 C T 10: 98,835,713 (GRCm39) T486M probably damaging Het
Cdc42bpa T A 1: 179,921,941 (GRCm39) probably benign Het
Espnl T C 1: 91,272,278 (GRCm39) I502T probably damaging Het
Fancm T C 12: 65,148,406 (GRCm39) Y674H probably damaging Het
Igf1r T A 7: 67,864,791 (GRCm39) D1196E probably damaging Het
Insrr A G 3: 87,717,245 (GRCm39) probably benign Het
Lypd9 A T 11: 58,338,277 (GRCm39) D38E probably damaging Het
Mcf2l C A 8: 13,050,004 (GRCm39) H313N probably damaging Het
Mdh1b C T 1: 63,760,646 (GRCm39) probably null Het
Mrc1 G A 2: 14,310,153 (GRCm39) V805I probably damaging Het
Ncam2 T G 16: 81,418,235 (GRCm39) D763E possibly damaging Het
Ncapg2 T G 12: 116,415,894 (GRCm39) H1091Q probably benign Het
Or5b112 T G 19: 13,319,386 (GRCm39) I88R probably benign Het
Or8h8 A G 2: 86,753,697 (GRCm39) Y60H probably damaging Het
Pcdh18 T A 3: 49,707,816 (GRCm39) D886V possibly damaging Het
Pdlim4 A G 11: 53,954,467 (GRCm39) V21A probably damaging Het
Safb2 A G 17: 56,878,289 (GRCm39) S24P probably benign Het
Sec16a A G 2: 26,329,195 (GRCm39) M940T probably benign Het
Snx14 A G 9: 88,304,949 (GRCm39) probably null Het
Sox1 T C 8: 12,446,625 (GRCm39) W89R probably damaging Het
Stx12 T C 4: 132,585,760 (GRCm39) M207V probably benign Het
Tex14 A G 11: 87,426,435 (GRCm39) T1154A probably damaging Het
Tmcc3 T G 10: 94,414,813 (GRCm39) S172A probably benign Het
Tnc T A 4: 63,889,461 (GRCm39) I1773F possibly damaging Het
Tshz3 A T 7: 36,470,170 (GRCm39) N720Y probably damaging Het
Usp19 G A 9: 108,373,002 (GRCm39) probably benign Het
Vmn1r170 A C 7: 23,306,273 (GRCm39) Q225P probably damaging Het
Vmn2r89 A G 14: 51,693,528 (GRCm39) I293V possibly damaging Het
Other mutations in Gnaq
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01967:Gnaq APN 19 16,355,524 (GRCm39) missense probably damaging 1.00
IGL02297:Gnaq APN 19 16,355,615 (GRCm39) missense probably damaging 1.00
IGL02400:Gnaq APN 19 16,293,492 (GRCm39) missense probably damaging 1.00
R0542:Gnaq UTSW 19 16,196,982 (GRCm39) missense probably damaging 0.99
R0800:Gnaq UTSW 19 16,312,428 (GRCm39) missense probably damaging 1.00
R1368:Gnaq UTSW 19 16,355,651 (GRCm39) missense probably benign
R1609:Gnaq UTSW 19 16,360,618 (GRCm39) missense possibly damaging 0.86
R4569:Gnaq UTSW 19 16,312,370 (GRCm39) missense probably damaging 1.00
R5123:Gnaq UTSW 19 16,309,449 (GRCm39) missense probably benign
R5360:Gnaq UTSW 19 16,110,790 (GRCm39) missense probably benign 0.01
R6384:Gnaq UTSW 19 16,293,377 (GRCm39) splice site probably null
R8251:Gnaq UTSW 19 16,312,419 (GRCm39) missense probably damaging 0.99
R9019:Gnaq UTSW 19 16,355,638 (GRCm39) missense probably benign
Posted On 2016-08-02